Molecular and Biochemical Genetics
From Iusmgenetics
(Difference between revisions)
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===Review your fundamentals=== | ===Review your fundamentals=== | ||
| - | === | + | ===Dominant Diseases=== |
*Dominant disease are defined as those manifested when only one allele is mutated. | *Dominant disease are defined as those manifested when only one allele is mutated. | ||
**Recall that some diseases can be both dominant and negative because of allelic heterogeneity and locus heterogeneity. | **Recall that some diseases can be both dominant and negative because of allelic heterogeneity and locus heterogeneity. | ||
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*It is important to understand the disease pathogenesis in order to think wisely about treatment. | *It is important to understand the disease pathogenesis in order to think wisely about treatment. | ||
| - | ===[[Achondroplasia]]=== | + | ====[[Achondroplasia]]==== |
| - | ===[[Osteogenesis imperfecta]]=== | + | ====[[Osteogenesis imperfecta]]==== |
| - | ===[[Ehlers Danlos Syndrome]]=== | + | ====[[Ehlers Danlos Syndrome]]==== |
| - | ===[[Marfan syndrome]]=== | + | ====[[Marfan syndrome]]==== |
| - | ===[[Familial Hypercholesterolemia]]=== | + | ====[[Familial Hypercholesterolemia]]==== |
| + | |||
| + | ===Recessive Diseases=== | ||
| + | |||
| + | ====[[Homocysteinuria]]==== | ||
Revision as of 17:20, 12 October 2011
Contents |
Molecular and Biochemical Genetics
Objectives
- Important terms:
- "Incomplete" dominance or "semi-dominant": homozygous individuals have a worse manifestation than heterozygous individuals (achondroplasia).
- "Distinct disorder": consistent clinical and radiological findings.
- Important concepts:
- Types of mutations:
- Missense: changed amino acid
- Nonsense: introduced stop codon
- Neutral / silent: no amino acid change
- RNA splicing: gain or loss of splice site
- Regulation mutation: affects gene regulation
- Indels: gain or loss of one or more bases; leads to frameshift if not a multiple of 3
- Repeat expansion: repeated segment (usually 3 bases) expands as nucleotide copy / repair mechanisms get hung up
- Haploinsufficiency:
- Dominant-negatie effect:
- Types of mutations:
- For individual diseases, know: clinical features, mode of inheritance, genes involved / gene defect, pathogenesis, treatment (sometimes)
Review your fundamentals
Dominant Diseases
- Dominant disease are defined as those manifested when only one allele is mutated.
- Recall that some diseases can be both dominant and negative because of allelic heterogeneity and locus heterogeneity.
- There are multiple ways we describe a single allele causing disease:
- Qualitative effects: the protein product gains a function.
- Quantitative effects: the protein product is broken.
- Combination of qualitative and quantitative.
- Others
- It is important to understand the disease pathogenesis in order to think wisely about treatment.
